Unique variants in the PIK3CA gene

Information The variants shown are described using the NM_006218.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+?/. 1 - c.112C>T - r.(?) p.(Arg38Cys) - ClinVar g.179198937C>T R38C dbSNP, ClinVar PIK3CA_000010 rs749415085 1/4 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1598C>T - r.(?) p.(Ala533Val) - - g.179218268C>T A533V Vincent Ching-Shian Leong et al. (2008) PIK3CA_000005 rs387907232 1/6 - Nuur Athirah Binti Mohd Daud
./. 1 - c.1624G>A - r.(?) p.(Glu542Lys) - ClinVar g.179218294G>A E542K Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, (OMIM 0009), ClinVar PIK3CA_000013 rs121913273 1/7 - Nuur Athirah Binti Mohd Daud
+/., ./. 3 - c.1633G>A - r.(?) p.(Glu545Lys) - ClinVar g.179218303G>A E545K dbSNP, (OMIM 0003), ClinVar, 1 more item PIK3CA_000001 rs104886003 1/2, 2/4, 2/7 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1637A>G - r.(?) p.(Gln546Arg) - ClinVar g.179218307A>G Q546R Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar PIK3CA_000003 rs397517201 1/7 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1639G>A - r.(?) p.(Glu547Lys) - - g.179218309G>A E547K Vincent Ching-Shian Leong et al. (2008) PIK3CA_000006 rs1278327904 1/6 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.2198A>G - r.(?) p.(Lys733Arg) - ClinVar g.179224091A>G K733R dbSNP, ClinVar PIK3CA_000011 rs181194055 1/2 - Nuur Athirah Binti Mohd Daud
./. 1 - c.3075C>T - r.(=) p.(=) - ClinVar g.179234232C>T 178952020C > T Nurul-Syakima Ab Mutalib et al. (2014)dbSNP PIK3CA_000009 rs17849079 1 - Nuur Athirah Binti Mohd Daud
./. 1 - c.3129G>A - r.(?) p.(Met1043Ile) - ClinVar g.179234286G>A M1043I Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, ClinVar PIK3CA_000004 rs121913283 1/7 - Nuur Athirah Binti Mohd Daud
+/. 3 - c.3140A>G - r.(?) p.(His1047Arg) - ClinVar g.179234297A>G H1047R dbSNP, (OMIM 0001), ClinVar, Vincent Ching-Shian Leong et al. (2008), dbSNP, (OMIM 0001), ClinVar, 1 more item PIK3CA_000002 rs121913279 1/4, 2/6, 2/7 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.3166G>A - r.(?) p.(Asp1056Asn) - - g.179234323G>A D1056N - PIK3CA_000012 rs34671771 1 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.3171G>A - r.(?) p.(Trp1057*) - - g.179234328G>A W1057STOP Vincent Ching-Shian Leong et al. (2008) PIK3CA_000007 rs147550265 1/6 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.3184A>G - r.(?) p.(Ile1062Val) - - g.179234341A>G I1062V Vincent Ching-Shian Leong et al. (2008) PIK3CA_000008 rs193920997 1/6 - Nuur Athirah Binti Mohd Daud
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